RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair
Nicholas F. DeCleene, Elif Aşık, Anthony R. Sanchez, Christopher L. Williams, Elena B. Kabotyanski, Na Zhao, Nimrat Chatterjee, Kyle M. Miller, YH Wang, Alison A. Bertuch
This study shows that RPS19 and RPL5 mutations in DBA impair DNA double-strand break repair, potentially explaining cancer risk in patients.
bioRxiv · Oct 10, 2024 · PreprintMolecular Biology